Linked Data
ClinVar Variation Id:
4654
dbSNP Id:
rs121908165
ExAC:
1:154246014 C / T
gnomAD v2:
1-154246014-C-T
gnomAD v4:
1-154273538-C-T
PubMed:
PMID:18611981
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154273538C>T , CM000663.2:g.154273538C>T | GRCh38 |
| NC_000001.10:g.154246014C>T , CM000663.1:g.154246014C>T | GRCh37 |
| NC_000001.9:g.152512638C>T | NCBI36 |
| NG_007369.1:g.5976C>T , LRG_64:g.5976C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435087.2:c.252+4C>T | ENSP00000394920.2:n.252+4C>T | |
| ENST00000447768.7:c.252+4C>T | ENSP00000403848.2:n.252+4C>T | |
| ENST00000459914.2:n.357C>T | ||
| ENST00000471326.6:n.932C>T | ||
| ENST00000477780.3:n.343C>T | ||
| ENST00000483970.7:c.256C>T | ENSP00000435088.1:p.Arg86Ter | |
| ENST00000531435.6:n.426C>T | ||
| ENST00000696929.1:c.256C>T | ENSP00000512978.1:p.Arg86Ter | |
| ENST00000696931.1:n.357C>T | ||
| ENST00000696932.1:c.256C>T | ENSP00000512979.1:p.Arg86Ter | |
| ENST00000696933.1:c.256C>T | ENSP00000512980.1:p.Arg86Ter | |
| ENST00000696938.1:c.256C>T | ENSP00000512983.1:p.Arg86Ter | |
| ENST00000696941.1:c.178C>T | ENSP00000512986.1:p.Arg60Ter | |
| ENST00000696944.1:c.178C>T | ENSP00000512989.1:p.Arg60Ter | |
| ENST00000696945.1:c.178C>T | ENSP00000512990.1:p.Arg60Ter | |
| ENST00000696965.1:c.178C>T | ENSP00000513004.1:p.Arg60Ter | |
| ENST00000696966.1:c.174+4C>T | ENSP00000513005.1:n.174+4C>T | |
| ENST00000697592.1:c.178C>T | ENSP00000513356.1:p.Arg60Ter | |
| ENST00000697830.1:c.178C>T | ENSP00000513452.1:p.Arg60Ter | |
| ENST00000328703.12:c.256C>T MANE Select | ENSP00000329002.7:p.Arg86Ter | |
| ENST00000328703.11:c.256C>T | ENSP00000329002.7:p.Arg86Ter | |
| ENST00000435087.1:c.252+4C>T | ENSP00000394920.1:n.252+4C>T | |
| ENST00000447768.6:c.252+4C>T | ENSP00000403848.2:n.252+4C>T | |
| ENST00000457918.6:c.112C>T | ENSP00000411448.2:p.Arg38Ter | |
| ENST00000471326.5:n.671C>T | ||
| ENST00000477780.2:n.343C>T | ||
| ENST00000483970.6:c.256C>T | ENSP00000435088.1:p.Arg86Ter | |
| ENST00000531435.5:n.351C>T | ||
| ENST00000532105.1:c.-68-236C>T | ENSP00000433951.1:n.-68-236C>T | |
| NM_001018837.1:c.112C>T | NP_001018238.1:p.Arg38Ter | |
| NM_006118.3:c.256C>T , LRG_64t1:c.256C>T | NP_006109.2:p.Arg86Ter | |
| NM_001018837.2:c.112C>T | NP_001018238.1:p.Arg38Ter | |
| NM_006118.4:c.256C>T MANE Select | NP_006109.2:p.Arg86Ter |